Search Results - "Pedroso, J L"

Huntington disease and Huntington disease-like in a case series from Brazil by Castilhos, R.M., Souza, A.F.D., Furtado, G.V., Gheno, T.C., Silva, A.L., Vargas, F.R., Lima, M.-A.F.D., Barsottini, O., Pedroso, J.L., Godeiro Jr, C., Salarini, D., Pereira, E.T., Lin, K., Toralles, M.-B., Saute, J.A.M., Rieder, C.R., Quintas, M., Sequeiros, J., Alonso, I., Saraiva-Pereira, M.L., Jardim, L.B.

“…The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD‐like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2…”
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MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X-Associated Tremor/Ataxia Syndrome by Padilha, I G, Nunes, R H, Scortegagna, F A, Pedroso, J L, Marussi, V H, Rodrigues Gonçalves, M R, Barsottini, O G P, da Rocha, A J

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Interaction dam-reservoir: study of conservative and dissipative effects by SILVA, S. F. da, PEDROSO, L. J.

“…Abstract In this paper, the Laplace’s equation is solved analytically in the complex plane for the field of hydrodynamic pressures generated by the rigid body…”
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Autonomic dysfunction in hereditary spastic paraplegia type 4 by González‐Salazar, C., Takazaki, K. A. G., Martinez, A. R. M., Pimentel‐Silva, L. R., Jacinto‐Scudeiro, L. A., Nakagawa, É. Y., Fujiwara Murakami, C. E., Saute, J. A. M., Pedroso, J. L., Barsottini, O. G. P., Teive, H. A. G., França Jr, M. C.

“…Background and purpose SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4‐HSP), which is characterized by progressive lower limb…”
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Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil by Gheno, T. C., Furtado, G. V., Saute, J. A. M., Donis, K. C., Fontanari, A. M. V., Emmel, V. E., Pedroso, J. L., Barsottini, O., Godeiro‐Junior, C., Linden, H., Ternes Pereira, E., Cintra, V. P., Marques, W., Castilhos, R. M., Alonso, I., Sequeiros, J., Cornejo‐Olivas, M., Mazzetti, P., Leotti, V. B., Jardim, L. B., Saraiva‐Pereira, M. L.

“…Background and purpose Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim…”
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From numerical prototypes to real models: a progressive study of aerodynamic parameters of nonconventional concrete structures with Computational Fluid Dynamics by SARMENTO, C. V. S., FONTE, A. O. C., PEDROSO, L. J., RIBEIRO, P. M. V.

“…Abstract The practical evaluation of aerodynamic coefficients in unconventional concrete structures requires specific studies, which are small-scale models…”
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Influence of the placement rate on the fresh concrete lateral pressure in the design of formworks by SOUSA, M. O., SANTOS, N. S., PEREIRA, R. L., MARTINS, P. C. R., PEDROSO, L. J.

“…Abstract The fresh concrete lateral pressure generates a load that has great influence in the design of the formworks of columns, walls and lateral faces of…”
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Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3 by Braga-Neto, P, Felicio, A.C, Pedroso, J.L, Dutra, L.A, Bertolucci, P.H.F, Gabbai, A.A, Barsottini, O.G.P

“…Abstract Olfactory dysfunction is a very common and early sign in neurodegenerative disorders, but few data are already available in hereditary ataxias. Our…”
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Teaching neuroimages: a prematurely aging patient presenting with severe leukoaraiosis and stroke by Seixas, J C, Pedroso, J L, Fukuda, T G, de Figueiredo, M M, Baiense, R F, Yared, J H, Ferraz, H B, Barsottini, O G P

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Teaching NeuroImages: brucellosis mimicking demyelinating disease by Abrahão, A, de Aquino, C C H, Pedroso, J L, Baiense, R F, Oliveira, R A, Jorge, V M, Barsottini, O G P

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family by Pedroso, José Luiz, Braga-Neto, Pedro, Abrahão, Agessandro, Rivero, René Leandro Magalhães, Abdalla, Carolina, Abdala, Nitamar, Barsottini, Orlando Graziani Povoas

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and…”
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SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome by Braga-Neto, Pedro, Pedroso, José Luiz, Felício, André Carvalho, Abrahão, Agessandro, Dutra, Lívia Almeida, Bezerra, Marcio Luiz Escorcio, Barsottini, Orlando Graziani Povoas

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Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis by Maciel, Ricardo Oliveira Horta, Pedroso, José Luiz, Barsottini, Orlando G P

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness by Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

“…Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like…”
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Diagnosis at a first glance? "Bulging eyes" as a clue for a more accurate diagnosis in spinocerebellar ataxias by Pedroso, José Luiz

“…Despite so many genetic discoveries, ease for a genetic test and even exome sequencing, it is almost impossible to conduct a diagnostic approach for hereditary…”
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Sleep disorders in cerebellar ataxias by Pedroso, José L, Braga-Neto, Pedro, Felício, André C, Aquino, Camila C H, Prado, Lucila B Fernandes do, Prado, Gilmar Fernandes do, Barsottini, Orlando G P

“…Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of…”
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Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function by Aizawa, Carolina Yuri P, Pedroso, José Luiz, Braga-Neto, Pedro, Callegari, Marilia Rezende, Barsottini, Orlando Graziani Povoas

“…To assess balance and ability to function in patients with spinocerebellar ataxia. A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3,…”
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Teaching Neuro Images : Brucellosis mimicking demyelinating disease by Abrahão, A., de Aquino, C.C.H., Pedroso, J.L., Baiense, R.F., Oliveira, R.A., Jorge, V.M., Barsottini, O.G.P.

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Reply to: “Association between Microscopic Colitis and Parkinson's Disease in a Swedish Population” by Kang, Xiaoying, Ploner, Alexander, Roelstraete, Bjorn, Khalili, Hamed, Williams, Dylan M., Pedersen, Nancy L., Ludvigsson, Jonas F., Wirdefeldt, Karin

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Progressive supranuclear palsy: new concepts by Barsottini, Orlando Graziani Povoas, Felício, André Carvalho, Aquino, Camila Catherine Henriques de, Pedroso, José Luiz

“…Progressive supranuclear palsy (PSP) is a distinctive form of neurodegenerative disease which affects the brainstem and basal ganglia. Patients present…”
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